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POT1
Protection of telomeres protein 1 is a protein that in humans is encoded by the ''POT1'' gene. Function This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex known as shelterin, that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Alternatively spliced transcript variants have been described. The absence of POT1 in mouse embryonic fibroblasts and chicken cells leads to a detrimental DNA damage response on telomeres resulting in telomere dysfunction-induced foci (TIFs). POT1 is required for telomere protection because it allows for telomere inhibition of DNA damage response factors. The protein also serves a role in the regulation of telomerase activity on telomeres. In vitro experiments util ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Shelterin
Shelterin (also called telosome) is a protein complex known to protect telomeres in many eukaryotes from DNA repair mechanisms, as well as to regulate telomerase activity. In mammals and other vertebrates, telomeric DNA consists of repeating double-stranded 5'-TTAGGG-3' (G-strand) sequences (2-15 kilobases in humans) along with the 3'-AATCCC-5' (C-strand) complement, ending with a 50-400 nucleotide 3' (G-strand) overhang. Much of the final double-stranded portion of the telomere forms a T-loop (Telomere-loop) that is invaded by the 3' (G-strand) overhang to form a small D-loop (Displacement-loop). The absence of shelterin causes telomere uncapping and thereby activates damage-signaling pathways that may lead to non-homologous end joining (NHEJ), homology directed repair (HDR), end-to-end fusions, genomic instability, senescence, or apoptosis. Subunits Shelterin has six subunits: TRF1, TRF2, POT1, RAP1, TIN2, and TPP1. They can operate in smaller subsets to r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TINF2
TERF1-interacting nuclear factor 2 is a protein that in humans is encoded by the ''TINF2'' gene. TINF2 is a component of the shelterin protein complex found at the end of telomeres. Interactions TINF2 has been shown to interact with ACD, POT1 Protection of telomeres protein 1 is a protein that in humans is encoded by the ''POT1'' gene. Function This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein fu ... and TERF1. References Further reading * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Dyskeratosis CongenitaPDBe-KBprovides an overview of all the structure information available in the PDB for Human TERF1-interacting nuclear factor 2 (TINF2) Telomere-related proteins {{gene-14-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ACD (gene)
Adrenocortical dysplasia protein homolog is a protein that in humans is encoded by the ''ACD'' gene. Function This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. TPP1 is a component of the telomere-specific shelterin complex, which facilitates the replication of the double-stranded telomeric DNA tracts and protects the telomeric end from unregulated DNA repair activities. TPP1 mainly functions a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Telomere
A telomere (; ) is a region of repetitive nucleotide sequences associated with specialized proteins at the ends of linear chromosomes (see #Sequences, Sequences). Telomeres are a widespread genetic feature most commonly found in eukaryotes. In most, if not all species possessing them, they protect the terminal regions of DNA, chromosomal DNA from progressive degradation and ensure the integrity of linear chromosomes by preventing DNA repair systems from mistaking the very ends of the DNA strand for a double-strand break. Discovery The existence of a special structure at the ends of chromosomes was independently proposed in 1938 by Hermann Joseph Muller, studying the fruit fly ''Drosophila melanogaster'', and in 1939 by Barbara McClintock, working with maize. Muller observed that the ends of irradiated fruit fly chromosomes did not present alterations such as deletions or inversions. He hypothesized the presence of a protective cap, which he coined "telomeres", from the Greek ' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Telomerase
Telomerase, also called terminal transferase, is a ribonucleoprotein that adds a species-dependent telomere repeat sequence to the 3' end of telomeres. A telomere is a region of repetitive sequences at each end of the chromosomes of most eukaryotes. Telomeres protect the end of the chromosome from DNA damage or from fusion with neighbouring chromosomes. The fruit fly ''Drosophila melanogaster'' lacks telomerase, but instead uses retrotransposons to maintain telomeres. Telomerase is a reverse transcriptase enzyme that carries its own RNA molecule (e.g., with the sequence 3′- CCC AA UCCC-5′ in '' Trypanosoma brucei'') which is used as a template when it elongates telomeres. Telomerase is active in gametes and most cancer cells, but is normally absent in most somatic cells. History The existence of a compensatory mechanism for telomere shortening was first found by Soviet biologist Alexey Olovnikov in 1973, who also suggested the telomere hypothesis of aging and the telo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gastric Cancer
Stomach cancer, also known as gastric cancer, is a malignant tumor of the stomach. It is a cancer that develops in the lining of the stomach. Most cases of stomach cancers are gastric carcinomas, which can be divided into a number of subtypes, including gastric adenocarcinomas. Lymphomas and mesenchymal tumors may also develop in the stomach. Early symptoms may include heartburn, upper abdominal pain, nausea, and loss of appetite. Later signs and symptoms may include weight loss, yellowing of the skin and whites of the eyes, vomiting, difficulty swallowing, and blood in the stool, among others. The cancer may spread from the stomach to other parts of the body, particularly the liver, lungs, bones, lining of the abdomen, and lymph nodes. The bacterium ''Helicobacter pylori'' accounts for more than 60% of cases of stomach cancer. Certain strains of ''H. pylori'' have greater risks than others. Smoking, dietary factors such as pickled vegetables and obesity are other ris ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chronic Lymphocytic Leukemia
Chronic lymphocytic leukemia (CLL) is a type of cancer that affects the blood and bone marrow. In CLL, the bone marrow makes too many lymphocytes, which are a type of white blood cell. In patients with CLL, B cell lymphocytes can begin to collect in their blood, spleen, lymph nodes, and bone marrow. These cells do not function well and crowd out healthy blood cells. CLL is divided into two main types: # Slow-growing CLL (indolent CLL) # Fast-growing CLL Many people do not have any symptoms when they are first diagnosed. Those with symptoms (about 5-10% of patients with CLL) may experience the following: * Fevers * Fatigue * Night sweats * Unexplained weight loss * Loss of appetite * Painless lymph node swelling * Splenomegaly, Enlargement of the spleen, and/or * A anemia, low red blood cell count (anemia). These symptoms may worsen over time. While the exact cause of CLL is unknown, having a family member with CLL increases one's risk of developing the disease. Environmental ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Melanoma
Melanoma is the most dangerous type of skin cancer; it develops from the melanin-producing cells known as melanocytes. It typically occurs in the skin, but may rarely occur in the mouth, intestines, or eye (uveal melanoma). In very rare cases melanoma can also happen in the lung which is known as primary pulmonary melanoma and only happens in 0.01% of primary lung tumors. In women, melanomas most commonly occur on the legs; while in men, on the back. Melanoma is frequently referred to as malignant melanoma. However, the medical community stresses that there is no such thing as a 'benign melanoma' and recommends that the term 'malignant melanoma' should be avoided as redundant. About 25% of melanomas develop from nevus, moles. Changes in a mole that can indicate melanoma include increaseespecially rapid increasein size, irregular edges, change in color, itchiness, or nevus#Classification, skin breakdown. The primary cause of melanoma is ultraviolet light (UV) exposure in th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glioma
A glioma is a type of primary tumor that starts in the glial cells of the brain or spinal cord. They are malignant but some are extremely slow to develop. Gliomas comprise about 30% of all brain and central nervous system tumors and 80% of all malignant brain tumors. They are a few common types that include astrocytoma (cancer of astrocytes), glioblastoma (an aggressive form of astrocytoma), oligodendroglioma (cancer of oligodendrocytes), and ependymoma (cancer of ependymal cells). Signs and symptoms Symptoms of gliomas depend on the part of the central nervous system (CNS) that is affected. A brain glioma can cause headaches, vomiting, memory loss, seizures, vision problems, speech difficulties, and cranial nerve disorders as a result of increased intracranial pressure. Cognitive impairments such as vision loss arise in glioma patients when a tumor arises in or around their optic nerve. Spinal cord gliomas can cause pain, weakness, or numbness in the extremities ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
